Linked Data
ClinVar Variation Id:
387933
dbSNP Id:
rs1045875195
gnomAD v2:
X-76889105-C-A
gnomAD v3:
X-77633617-C-A
gnomAD v4:
X-77633617-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77633617C>A , CM000685.2:g.77633617C>A | GRCh38 |
| NC_000023.10:g.76889105C>A , CM000685.1:g.76889105C>A | GRCh37 |
| NC_000023.9:g.76775761C>A | NCBI36 |
| NG_008838.2:g.157605G>T | |
| NG_008838.3:g.157653G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4905G>T MANE Select | ENSP00000362441.4:p.Met1635Ile | |
| ENST00000675732.1:c.3G>T | ENSP00000502598.1:p.Met1Ile | |
| ENST00000675908.1:n.640G>T | ||
| ENST00000373344.9:c.4905G>T | ENSP00000362441.4:p.Met1635Ile | |
| ENST00000395603.7:c.4791G>T | ENSP00000378967.3:p.Met1597Ile | |
| ENST00000480283.5:c.*4533G>T | ENSP00000480196.1:n.*4533G>T | |
| ENST00000623242.3:c.642G>T | ||
| ENST00000624403.1:n.249G>T | ||
| NM_000489.4:c.4905G>T | NP_000480.3:p.Met1635Ile | |
| NM_138270.3:c.4791G>T | NP_612114.2:p.Met1597Ile | |
| XM_005262153.3:c.4902G>T | XP_005262210.2:p.Met1634Ile | |
| XM_005262154.3:c.4818G>T | XP_005262211.2:p.Met1606Ile | |
| XM_005262155.3:c.4788G>T | XP_005262212.2:p.Met1596Ile | |
| XM_005262156.3:c.4740G>T | XP_005262213.2:p.Met1580Ile | |
| XM_005262157.3:c.4701G>T | XP_005262214.2:p.Met1567Ile | |
| XM_006724666.2:c.4788G>T | XP_006724729.1:p.Met1596Ile | |
| XM_006724667.2:c.4626G>T | XP_006724730.1:p.Met1542Ile | |
| XM_006724668.2:c.4905G>T | XP_006724731.1:p.Met1635Ile | |
| XR_938400.1:n.5173G>T | ||
| NM_000489.5:c.4905G>T | NP_000480.3:p.Met1635Ile | |
| XM_005262153.5:c.4902G>T | XP_005262210.2:p.Met1634Ile | |
| XM_005262154.5:c.4818G>T | XP_005262211.2:p.Met1606Ile | |
| XM_005262155.4:c.4788G>T | XP_005262212.2:p.Met1596Ile | |
| XM_005262156.4:c.4740G>T | XP_005262213.2:p.Met1580Ile | |
| XM_005262157.5:c.4701G>T | XP_005262214.2:p.Met1567Ile | |
| XM_006724666.4:c.4788G>T | XP_006724729.1:p.Met1596Ile | |
| XM_006724667.3:c.4626G>T | XP_006724730.1:p.Met1542Ile | |
| XM_006724668.3:c.4905G>T | XP_006724731.1:p.Met1635Ile | |
| XM_017029601.2:c.4815G>T | XP_016885090.1:p.Met1605Ile | |
| XM_017029602.1:c.4785G>T | XP_016885091.1:p.Met1595Ile | |
| XM_017029603.1:c.4737G>T | XP_016885092.1:p.Met1579Ile | |
| XM_017029604.2:c.4704G>T | XP_016885093.1:p.Met1568Ile | |
| XM_017029605.1:c.4701G>T | XP_016885094.1:p.Met1567Ile | |
| XM_017029606.2:c.4674G>T | XP_016885095.1:p.Met1558Ile | |
| XM_017029607.2:c.4671G>T | XP_016885096.1:p.Met1557Ile | |
| XM_017029608.2:c.4623G>T | XP_016885097.1:p.Met1541Ile | |
| XM_017029609.1:c.4587G>T | XP_016885098.1:p.Met1529Ile | |
| XM_017029610.1:c.4584G>T | XP_016885099.1:p.Met1528Ile | |
| XM_017029611.1:c.4539G>T | XP_016885100.1:p.Met1513Ile | |
| XR_001755700.2:n.5130G>T | ||
| NM_138270.4:c.4791G>T | NP_612114.2:p.Met1597Ile | |
| NM_000489.6:c.4905G>T MANE Select | NP_000480.3:p.Met1635Ile | |
| NM_138270.5:c.4791G>T | NP_612114.2:p.Met1597Ile |